NM_014571.4(HEYL):c.893C>G (p.Pro298Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 1, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004081579.1

Allele description [Variation Report for NM_014571.4(HEYL):c.893C>G (p.Pro298Arg)]

NM_014571.4(HEYL):c.893C>G (p.Pro298Arg)

Gene:

HEYL:hes related family bHLH transcription factor with YRPW motif like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

Preferred name:

NM_014571.4(HEYL):c.893C>G (p.Pro298Arg)

HGVS:

NC_000001.11:g.39626601G>C
NM_014571.4:c.893C>GMANE SELECT
NP_055386.2:p.Pro298Arg
NC_000001.10:g.40092273G>C
NM_014571.3:c.893C>G

Protein change:

P298R

Molecular consequence:

NM_014571.4:c.893C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Ananas comosus var. microstachys alanine-glyoxylate aminotransferase (agt1) gene...
Ananas comosus var. microstachys alanine-glyoxylate aminotransferase (agt1) gene, partial cds
gi|998490304|gb|KU095898.1|

Nucleotide
myglobin, partial [Accipiter haplochrous]
myglobin, partial [Accipiter haplochrous]
gi|767008768|gb|AJT40163.1|

Protein
Accipiter henstii isolate A.henstii_140 cytochrome b (CYTB) gene, partial cds; m...
Accipiter henstii isolate A.henstii_140 cytochrome b (CYTB) gene, partial cds; mitochondrial
gi|1625848737|gb|MK433180.1|

Nucleotide
KIAA1122 protein [Homo sapiens]
KIAA1122 protein [Homo sapiens]
gi|929654309|dbj|BAA86436.3|

Protein
Paeonia delavayi
Paeonia delavayi
Paeonia delavayi Transcriptome or Gene expression

BioProject

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003535790	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003535790

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003535790.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.893C>G (p.P298R) alteration is located in exon 5 (coding exon 5) of the HEYL gene. This alteration results from a C to G substitution at nucleotide position 893, causing the proline (P) at amino acid position 298 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine